Submissions for variant NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)

dbSNP: rs1554817388

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660333	SCV000782382	likely pathogenic	Tuberous sclerosis 1	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000660333	SCV001209770	pathogenic	Tuberous sclerosis 1	2024-08-05	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln328*) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 23647917). ClinVar contains an entry for this variant (Variation ID: 547821). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV000660333	SCV002041097	pathogenic	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000660333	SCV002559893	pathogenic	Tuberous sclerosis 1	2022-08-01	criteria provided, single submitter	clinical testing